Cerebellar Ataxia and Chorea: Genetic Etiologies and Key Considerations for Diagnosis and Management.

BACKGROUND

The differential diagnosis of progressive ataxia is broad. Multiple degenerative, inherited, and acquired causes of ataxia must be considered. The presence of chorea as part of the clinical phenotype provides invaluable clinical information which may help to narrow the differential.

OBJECTIVES

There are a limited number of conditions with both prominent chorea and cerebellar ataxia, and it is essential for clinicians to recognize these disorders to direct early disease-specific treatment. We aim to identify these conditions and propose a diagnostic approach.

METHODS

We conducted a literature search on PubMed from January 2000 to January 2025 using search terms including "ataxia," "cerebellar ataxia," "chorea," and "ataxia-chorea syndromes."

RESULTS

We identify and examine the key clinical features of several inherited disorders with this unique clinical phenotype, including spinocerebellar ataxias, Huntington's disease, dentatorubral-pallidoluysian atrophy, ataxia telangiectasia, disorders of brain iron metabolism, Wilson's disease, Niemann-Pick disease type C, ataxia with oculomotor apraxia, glucose transporter type 1 deficiency, mitochondrial cytopathies, along with other rare genetic and metabolic disorders. We provide insight into diagnostic approach and genetic testing with focus on identifying treatable conditions.

CONCLUSIONS

Features unique to each disorder are discussed, along with current treatment and diagnostic considerations.